CeliacAnswer Bank

Frequently Asked Questions

Q

What is genetic testing and who can benefit from it?

Genetic testing can determine whether or not an at-risk individual carries the genes responsible for the development of celiac disease. These genes are located on the HLA-class II complex and are called DQ2 and DQ8. Each case of celiac disease has had these so-called “haplotypes;” therefore, a negative gene test indicates that celiac disease cannot develop in that individual.
There are two main reasons for taking a genetic test to evaluate an individual for celiac disease. The first case is to “rule out” celiac disease, which would indicate that an individual does not possess a necessary risk factor for the development of it. Those who test negative for the gene are not required to have blood screening for the remainder of their lives. For example, children of an adult with celiac disease could have gene tests, and the results would allow the parent to know which children need close monitoring.
Second, a genetic test may be the only way to determine if symptoms could be a result of celiac disease in individuals with symptoms who have been on a gluten-free diet for some period of time and have never had a biopsy as part of their diagnosis. For a person who faces this situation, a negative gene test would indicate that symptoms are not the result of celiac disease. A positive gene test, however, would not diagnose the disease but does increase the likelihood of its presence. July, 2012